Mutagenetix > Incidental Mutation

Incidental Mutation 'R1571:Nom1'

186199

Institutional Source

Beutler Lab

Gene Symbol

Nom1

Ensembl Gene

ENSMUSG00000001569

Gene Name

nucleolar protein with MIF4G domain 1

Synonyms

LOC381627, D5Kng1, Gm1040

MMRRC Submission

039610-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29637338-29658504 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 29647633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 623 (Q623*)

Ref Sequence

ENSEMBL: ENSMUSP00000001611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001611]

AlphaFold

Q3UFM5

Predicted Effect

probably null
Transcript: ENSMUST00000001611
AA Change: Q623*

SMART Domains

Protein: ENSMUSP00000001611
Gene: ENSMUSG00000001569
AA Change: Q623*

Domain	Start	End	E-Value	Type
low complexity region	79	98	N/A	INTRINSIC
low complexity region	102	114	N/A	INTRINSIC
low complexity region	119	147	N/A	INTRINSIC
coiled coil region	170	197	N/A	INTRINSIC
low complexity region	227	250	N/A	INTRINSIC
low complexity region	311	326	N/A	INTRINSIC
MIF4G	356	553	1.1e-21	SMART
MA3	649	755	1.59e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146347

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610524H06Rik	A	G	5: 114,961,372 (GRCm39)		probably null	Het
Abcd3	T	C	3: 121,586,491 (GRCm39)	I70V	possibly damaging	Het
Acad10	T	C	5: 121,759,411 (GRCm39)	Y1024C	probably damaging	Het
Atp2b3	T	G	X: 72,588,712 (GRCm39)	V701G	probably damaging	Het
Cbfa2t2	T	A	2: 154,342,347 (GRCm39)	M21K	probably damaging	Het
Cdc25a	C	T	9: 109,710,614 (GRCm39)	T106I	possibly damaging	Het
Cdhr5	T	C	7: 140,852,083 (GRCm39)	T190A	probably damaging	Het
Chl1	A	G	6: 103,685,445 (GRCm39)	T829A	probably benign	Het
Clcn6	T	C	4: 148,097,226 (GRCm39)	T614A	possibly damaging	Het
Cntln	A	T	4: 84,865,823 (GRCm39)	R160*	probably null	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dock3	C	A	9: 106,815,158 (GRCm39)	M1236I	possibly damaging	Het
Eif4g3	T	A	4: 137,847,719 (GRCm39)	H213Q	probably damaging	Het
Eya1	T	A	1: 14,279,141 (GRCm39)	H372L	probably damaging	Het
Fam13b	A	G	18: 34,630,485 (GRCm39)	V91A	possibly damaging	Het
Hat1	T	A	2: 71,264,519 (GRCm39)	I319K	probably benign	Het
Kcnf1	T	C	12: 17,225,853 (GRCm39)	N123D	probably benign	Het
Kcns3	C	A	12: 11,141,551 (GRCm39)	G383W	probably damaging	Het
Kprp	A	T	3: 92,732,689 (GRCm39)	C120*	probably null	Het
Lama3	T	A	18: 12,672,774 (GRCm39)	C2456S	probably damaging	Het
Lrp1b	A	T	2: 41,366,658 (GRCm39)	D539E	probably damaging	Het
Matn3	T	C	12: 9,005,466 (GRCm39)	L292S	probably damaging	Het
Mbd3l1	T	A	9: 18,395,947 (GRCm39)	I24N	probably damaging	Het
Med10	T	C	13: 69,958,159 (GRCm39)	L37P	probably damaging	Het
Mrc1	A	T	2: 14,313,544 (GRCm39)	H925L	probably damaging	Het
Myo15a	T	A	11: 60,409,290 (GRCm39)	I3219N	probably damaging	Het
Nrm	T	A	17: 36,175,079 (GRCm39)	W136R	probably damaging	Het
Or8h8	A	C	2: 86,753,789 (GRCm39)	V29G	probably benign	Het
Pde7b	T	C	10: 20,288,836 (GRCm39)	N298S	probably benign	Het
Piezo2	C	T	18: 63,277,990 (GRCm39)	A305T	possibly damaging	Het
Pimreg	T	C	11: 71,936,042 (GRCm39)	L175P	possibly damaging	Het
Pkhd1l1	A	G	15: 44,390,237 (GRCm39)	D1451G	probably benign	Het
Ptpro	A	G	6: 137,355,128 (GRCm39)	S212G	probably benign	Het
Rhpn1	C	T	15: 75,585,967 (GRCm39)	R627C	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnase4	T	G	14: 51,342,497 (GRCm39)	F74V	probably damaging	Het
Sbno2	A	G	10: 79,896,226 (GRCm39)		probably null	Het
Selp	T	C	1: 163,954,176 (GRCm39)	Y159H	probably damaging	Het
Senp6	A	G	9: 80,000,853 (GRCm39)	T21A	probably damaging	Het
Slco1a7	A	T	6: 141,700,135 (GRCm39)	C132*	probably null	Het
Slco3a1	T	C	7: 74,154,128 (GRCm39)	D148G	possibly damaging	Het
Smtn	G	A	11: 3,480,102 (GRCm39)	P373L	probably benign	Het
Snx20	A	T	8: 89,356,597 (GRCm39)	L73Q	probably damaging	Het
Sobp	A	G	10: 43,033,942 (GRCm39)	V128A	possibly damaging	Het
Tcerg1	A	G	18: 42,657,357 (GRCm39)	T280A	unknown	Het
Tgfbrap1	A	G	1: 43,088,973 (GRCm39)	V810A	probably benign	Het
Thbs1	C	A	2: 117,949,678 (GRCm39)	D589E	probably damaging	Het
Tjp2	A	G	19: 24,078,239 (GRCm39)	Y885H	probably damaging	Het
Tmem109	A	G	19: 10,849,993 (GRCm39)	S100P	probably damaging	Het
Trim36	T	C	18: 46,305,562 (GRCm39)	K462E	probably benign	Het
Vmn1r226	A	T	17: 20,908,538 (GRCm39)	I257F	probably damaging	Het
Vmn2r92	A	G	17: 18,372,352 (GRCm39)	Y54C	probably damaging	Het
Wdcp	T	A	12: 4,901,924 (GRCm39)	Y593*	probably null	Het
Wdr59	T	C	8: 112,177,682 (GRCm39)	S907G	probably damaging	Het

Other mutations in Nom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Nom1	APN	5	29,651,272 (GRCm39)	missense	possibly damaging	0.74
IGL01795:Nom1	APN	5	29,651,869 (GRCm39)	missense	probably benign	0.06
IGL02308:Nom1	APN	5	29,642,708 (GRCm39)	missense	probably damaging	1.00
IGL02378:Nom1	APN	5	29,656,124 (GRCm39)	nonsense	probably null
IGL02506:Nom1	APN	5	29,644,814 (GRCm39)	splice site	probably benign
R0633:Nom1	UTSW	5	29,656,098 (GRCm39)	missense	probably damaging	1.00
R0652:Nom1	UTSW	5	29,640,309 (GRCm39)	missense	probably damaging	1.00
R1707:Nom1	UTSW	5	29,640,316 (GRCm39)	missense	probably damaging	0.99
R1852:Nom1	UTSW	5	29,651,876 (GRCm39)	missense	possibly damaging	0.46
R2025:Nom1	UTSW	5	29,651,849 (GRCm39)	missense	probably damaging	1.00
R2196:Nom1	UTSW	5	29,641,019 (GRCm39)	missense	probably benign	0.00
R2207:Nom1	UTSW	5	29,644,972 (GRCm39)	missense	probably damaging	1.00
R2256:Nom1	UTSW	5	29,642,750 (GRCm39)	missense	probably damaging	1.00
R2257:Nom1	UTSW	5	29,642,750 (GRCm39)	missense	probably damaging	1.00
R2680:Nom1	UTSW	5	29,648,415 (GRCm39)	missense	probably damaging	1.00
R3439:Nom1	UTSW	5	29,640,615 (GRCm39)	missense	probably benign	0.01
R4291:Nom1	UTSW	5	29,651,370 (GRCm39)	critical splice donor site	probably null
R4587:Nom1	UTSW	5	29,656,163 (GRCm39)	missense	possibly damaging	0.91
R5374:Nom1	UTSW	5	29,646,377 (GRCm39)	missense	probably damaging	1.00
R5761:Nom1	UTSW	5	29,642,639 (GRCm39)	missense	probably damaging	1.00
R5772:Nom1	UTSW	5	29,651,873 (GRCm39)	missense	possibly damaging	0.81
R5828:Nom1	UTSW	5	29,640,124 (GRCm39)	missense	possibly damaging	0.53
R5963:Nom1	UTSW	5	29,642,768 (GRCm39)	missense	probably damaging	1.00
R6208:Nom1	UTSW	5	29,654,617 (GRCm39)	missense	possibly damaging	0.83
R7234:Nom1	UTSW	5	29,640,451 (GRCm39)	missense	probably benign	0.01
R7476:Nom1	UTSW	5	29,647,534 (GRCm39)	missense	probably benign	0.29
R8848:Nom1	UTSW	5	29,645,137 (GRCm39)	missense	probably damaging	1.00
R9018:Nom1	UTSW	5	29,639,712 (GRCm39)	missense	possibly damaging	0.53
R9284:Nom1	UTSW	5	29,647,532 (GRCm39)	missense	probably damaging	0.99
R9390:Nom1	UTSW	5	29,639,766 (GRCm39)	missense	probably benign
R9608:Nom1	UTSW	5	29,642,750 (GRCm39)	missense	probably damaging	1.00
R9681:Nom1	UTSW	5	29,642,623 (GRCm39)	missense	probably damaging	0.99
Z1177:Nom1	UTSW	5	29,654,676 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGTGACAGAAGTGCAGGTGTGAATC -3'
(R):5'- TGCTGAGTTCCAACAACAGCTCC -3'

Sequencing Primer
(F):5'- TCCTGGGATGGCATCTTGAA -3'
(R):5'- CATAGGCTCACATGAGCTATTTC -3'

Posted On

2014-05-09